PDZ Domain-Containing Protein 8

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OMIM Number

614235

NCBI Gene ID

118987

Uniprot ID

Q8NEN9

Length

98,167 bases

No. of Exons

9

No. of isoforms

1

Protein Name

PDZ domain-containing protein 8

Molecular Mass

128563 Da

Amino Acid Count

1154

Genomic Location

chr10:117,277,274-117,375,440

Gene Map Locus
10q25.3-q26.11

Description

PDZD8 is a cytoskeletal regulatory protein that interacts with moesin and regulates stable microtubule abundance. Both MSN and PDZD8 suppress herpes simplex virus (HSV)-1 infection, but PDZD8 also promotes human immunodeficiency (HIV)-1 infection. [From OMIM]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_173791.5:c.2197_2200delOmanNC_000010.11:g.117284536_117284539delPathogenicIntellectual Developmental Disorder with Autism and Dysmorphic FaciesNM_173791.5:c.2197_2200del; NP_776152.1:p.Ser733Ter
NM_173791.5:c.894C>GUnited Arab EmiratesNC_000010.11:g.117341081G>CPathogenicIntellectual Developmental Disorder with Autism and Dysmorphic FaciesNM_173791.5:c.894C>G; NP_776152.1:p.Tyr298Ter770780478
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